46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies.
Am J Med Genet
; 45(5): 589-93, 1993 Mar 01.
Article
em En
| MEDLINE
| ID: mdl-8096117
ABSTRACT
We report the first case of a 46,XY/47,XYY mosaic male with fragile X [Fra(X)] expression in both cell lines. Cytogenetic analysis, DNA linkage analysis, and direct detection of the pre- and full mutation for the affected individual and his at-risk female relatives were performed. Southern analysis of PstI-digested DNA with probe pX6 clearly distinguished the normal genotype, the premutation, and the full mutation in various individuals in the patient's family. Fra(X) carriers who had normal cytogenetic results were clearly identified by direct mutation analysis.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Aberrações dos Cromossomos Sexuais
/
Cromossomo Y
/
Síndrome do Cromossomo X Frágil
/
Mosaicismo
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Infant
/
Male
Idioma:
En
Ano de publicação:
1993
Tipo de documento:
Article